Elsevier

Archives de Pédiatrie

Volume 3, Issue 8, August 1996, Pages 802-805
Archives de Pédiatrie

Fait clinique
Tumeur de Wilms et syndrome de BloomWilms tumor and Bloom syndrome

https://doi.org/10.1016/0929-693X(96)82165-8Get rights and content

Résumé

Le syndrome de Bloom associe un retard staturo-pondéral, des anomalies cutanées, une dysmorphie faciale, un déficit immunitaire et une fragilité chromosomique excessive; ce syndrome rare prédispose aux affections malignes.

Observation. - Morgan, atteint de ce syndrome, développe une turneur de Wilms à 4 ana. Il est traité selon le protocole SIOP 9 mais avec des doses réduites de chimiothérapie en raison d'une mauvaise tolérance (infectious). Il décède 2 ans plus tard du non-contrôle de sa tumeur.

Conclusion. - Le néphroblastome s'ajoute à la liste variée des néoplasies associées au syndrome de Bloom, justifiant la surveillance régulière par échographie abdominale des patients atteints.

Abstract

Bloom syndrome is characterized by growth failure, skin anomalies with sun sensitivity, minor anatomic defects, excessive chromosomic fragility and usually severe immune deficiency. The chromosome fragility predisposes these children to the development of hematologic malignancies and solid tumors.

Case report. - Morgan, a 4-year-old boy with Bloom syndrome, developed a Wilms tumor. Chemotherapy was poorly tolerated. Two years later, the child died from an uncontrolled progressive disease.

Conclusion. - This is the fourth reported case of Wilms tumor occurring in a child with Bloom syndrome. This possibility requires repeated abdominal ultrasonography in such patients.

Références (9)

  • A.E.L. Cairney et al.

    Wilms tumor in three patients with Bloom syndrome

    J Pediatr

    (1987)
  • J. German et al.

    Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1

  • J. German

    Bloom syndrome: a Mendelian prototype of sometic mutational disease

    Medicine

    (1993)
  • D. Bloom

    Congenital telangiectatic erythema resembling lupus erythematous in dwarfs

    Am J Dis Child

    (1954)
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